Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.240 | 20 | 34295469 | missense variant | G/A | snv | 2.8E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.240 | 20 | 34294119 | missense variant | T/C | snv | 4.0E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
4 | 0.851 | 0.280 | 1 | 160127638 | frameshift variant | C/- | del | 0.700 | 1.000 | 1 | 2020 | 2020 | |||||
|
4 | 0.851 | 0.280 | 1 | 160135284 | frameshift variant | GT/- | delins | 0.700 | 1.000 | 1 | 2020 | 2020 | |||||
|
6 | 0.807 | 0.320 | 12 | 2504538 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.807 | 0.320 | 12 | 2504944 | stop gained | G/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
73 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 16 | 88727652 | stop gained | C/T | snv | 1.8E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.200 | 16 | 88719917 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
11 | 0.752 | 0.480 | 17 | 68530405 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
20 | 0.708 | 0.560 | 12 | 112489083 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
16 | 0.776 | 0.360 | 1 | 155904470 | stop lost | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
15 | 0.776 | 0.360 | 1 | 155904494 | stop gained | A/C;G;T | snv | 0.700 | 0 | ||||||||
|
16 | 0.752 | 0.560 | 10 | 110964362 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 |